ClinVar contains an entry for this variant (Variation ID: 574387). Variants that disrupt the consensus splice web site are a comparatively common explanation for aberrant splicing (PMID: 17576681, 9536098). Algorithms made to predict the impact of sequence variations on RNA splicing suggest this variant may produce or reinforce a splice web site. In summary, the readily available proof is currently inadequate to determine the part of this variant in ailment. For that reason, it has been classified as a Variant of Unsure Significance.

This sequence improve has an effect on codon 777 from the GAA mRNA. It's really a 'silent' adjust, meaning that it does not alter the encoded amino acid sequence from the GAA protein. This variant also falls at the final nucleotide of exon sixteen, which can be A part of the consensus splice web page for this exon. This variant is present in populace databases (rs375311693, gnomAD 0.03%). This variant hasn't been reported inside the literature in people today impacted with GAA-relevant conditions.

There's no practical evidence in ClinVar for this variation. For those who have generated functional data for this variation, please consider publishing that facts to ClinVar.

This column incorporates more details supporting the classification, such as citations, the touch upon classification, and in depth proof presented as observations in the variant by the submitter.

The affliction for your classification, furnished by the submitter for this submitted (SCV) file. This column also consists of the influenced position and allele origin of individuals noticed using this type of variant.

The aggregate germline classification for this variant, generally for just a monogenic or Mendelian disorder as thr777 inside the ACMG/AMP recommendations, or for response into a drug. This price is calculated by NCBI based upon details from submitters. Read our guidelines for calculating the aggregate classification.

There aren't any citations for germline classification of this variant in ClinVar. If you realize of citations for this variation, make sure you contemplate submitting that information to ClinVar.

The quantity of variants in ClinVar which might be contained inside of this gene, having a connection to see the list of variants.

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Stars signify the combination assessment position, or the level of review supporting the combination germline classification for this VCV file.

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Stars signify the review standing, or the level of evaluation supporting the submitted (SCV) report. This value is calculated by NCBI according to details from the submitter.